日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

致病性GABRA3变异的功能后果决定了X连锁遗传是显性遗传还是隐性遗传。

Johannesen, Katrine M; Aung, Khaing Phyu; Liao, Vivian Wy; Absalom, Nathan; Chua, Han C; Gan, Xue N; Mao, Miaomiao; McKenzie, Chaseley E; Lee, Hian M; Ortiz, Sebastian; Spillmann, Rebecca C; Shashi, Vandana; Radtke, Rodney A; Mirzaa, Ghayda M; Weisner, P Anne; Flores Daboub, Josue; Hagedorn, Caroline; Bayrak-Toydemir, Pinar; DeMille, Desiree; Zhao, Jian; Bajaj, Nandita; Capri, Yline; Keren, Boris; Schmidts, Miriam; van de Laar, Ingrid Mbh; van Slegtenhorst, Marjon A; Ploski, Rafal; Bogotko, Marta; Bourque, Danielle K; Alkhunaizi, Ebba; Chad, Lauren; Quercia, Nada; Elloumi, Houda; Wentzensen, Ingrid M; Kruer, Michael C; Bisarad, Pritha; Galaz-Montoya, Carolina I; Rusu, Violeta; Braun, Dominique; Angione, Katie; Win, Jessica C; Espinosa-Jovel, Camilo; Zacher, Pia; Platzer, Konrad; Berkovic, Samuel F; Scheffer, Ingrid E; Chebib, Mary; Rubboli, Guido; Møller, Rikke S; Reid, Christopher A; Ahring, Philip K

The Role of Loss-of-Function KCNH2 Variants in Cardiac Arrhythmias, Seizures and the Risk of Sudden Unexpected Death in Epilepsy

KCNH2 功能丧失变异体在心律失常、癫痫发作和癫痫猝死风险中的作用

Lee, Hian M; Gan, Xue N; Aung, Khaing Phyu; Forster, Ian C; Reid, Christopher A; Soh, Ming S

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2 相关神经发育障碍:来自患者和非洲爪蟾细胞模型的数据

Houdayer Clara, Phillips A Marie, Chabbert Marie, Bourreau Jennifer, Maroofian Reza, Houlden Henry, Richards Kay, Saadi Nebal Waill, Dad'ová Eliška, Van Bogaert Patrick, Rupin Mailys, Keren Boris, Charles Perrine, Smol Thomas, Riquet Audrey, Pais Lynn, O'Donnell-Luria Anne, VanNoy Grace E, Bayat Allan, Møller Rikke S, Olofsson Kern, Jamra Rami Abou, Syrbe Steffen, Dasouki Majed, Seaver Laurie H, Sullivan Jennifer A, Shashi Vandana, Alkuraya Fowzan S, Poss Alexis F, Spence J Edward, Schnur Rhonda E, Forster Ian C, Mckenzie Chaseley E, Simons Cas, Wang Min, Snell Penny, Kothur Kavitha, Buckley Michael, Roscioli Tony, Elserafy Noha, Dauriat Benjamin, Procaccio Vincent, Henrion Daniel, Lenaers Guy, Colin Estelle, Verbeek Nienke E, Van Gassen Koen L, Legendre Claire, Bonneau Dominique, Reid Christopher A, Howell Katherine B, Ziegler Alban, Legros Christian

K(v)1.1 channels in cardiorespiratory regulation and sudden unexpected death in epilepsy: insights from mouse models

K(v)1.1通道在心肺调节和癫痫猝死中的作用:来自小鼠模型的启示

Hu, Amanda; Aung, Khaing Phyu; Reid, Christopher A; Soh, Ming S

A companion to the preclinical common data elements for rodent models of pediatric acquired epilepsy: A report of the TASK3-WG1B, Pediatric and Genetic Models Working Group of the ILAE/AES Joint Translational Task Force

儿童获得性癫痫啮齿动物模型临床前通用数据元素指南:国际抗癫痫联盟/美国癫痫学会联合转化工作组儿科和遗传模型工作组TASK3-WG1B报告

Katsarou, Anna-Maria; Kubova, Hana; Auvin, Stéphane; Mantegazza, Massimo; Barker-Haliski, Melissa; Galanopoulou, Aristea S; Reid, Christopher A; Semple, Bridgette D

A companion to the preclinical common data elements for genomics, transcriptomics, and epigenomics data in rodent epilepsy models. A report of the TASK3-WG4 omics working group of the ILAE/AES joint translational TASK force

啮齿动物癫痫模型基因组学、转录组学和表观基因组学数据的临床前通用数据元素指南。国际抗癫痫联盟/美国癫痫学会联合转化工作组TASK3-WG4组学工作组的报告。

van Vliet, Erwin A; Hildebrand, Michael S; Mills, James D; Brennan, Gary P; Eid, Tore; Masino, Susan A; Whittemore, Vicky; Bindila, Laura; Wang, Kevin K; Patel, Manisha; Perucca, Piero; Reid, Christopher A

A companion to the preclinical common data elements for rodent genetic epilepsy models. A report of the TASK3-WG1B: Paediatric and genetic models working group of the ILAE/AES joint translational TASK force

啮齿类遗传性癫痫模型临床前通用数据元素的配套指南。国际抗癫痫联盟/美国癫痫学会联合转化工作组TASK3-WG1B:儿科和遗传模型工作组的报告。

Mantegazza, Massimo; Auvin, Stėphane; Barker-Haliski, Melissa; Katsarou, Anna-Maria; Kubova, Hana; Galanopoulou, Aristea S; Semple, Bridgette; Reid, Christopher A

A companion to the preclinical common data elements for proteomics, lipidomics, and metabolomics data in rodent epilepsy models. A report of the TASK3-WG4 omics working group of the ILAE/AES joint translational TASK force

啮齿动物癫痫模型中蛋白质组学、脂质组学和代谢组学数据的临床前通用数据元素指南。国际抗癫痫联盟/美国癫痫学会联合转化工作组TASK3-WG4组学工作组的报告。

Bindila, Laura; Eid, Tore; Mills, James D; Hildebrand, Michael S; Brennan, Gary P; Masino, Susan A; Whittemore, Vicky; Perucca, Piero; Reid, Christopher A; Patel, Manisha; Wang, Kevin K; van Vliet, Erwin A

Development and characterization of a pentylenetetrazol-induced convulsive seizure model in non-anaesthetized sheep

在非麻醉绵羊中建立和表征戊四唑诱导的惊厥模型

Pustovit, Ruslan V; Lankadeva, Yugeesh R; Soh, Ming S; Berkovic, Sam F; Reid, Christopher A; May, Clive N

Different fluorescent labels report distinct components of spHCN channel voltage sensor movement

不同的荧光标记物可以反映 spHCN 通道电压传感器运动的不同组成部分。

Wojciechowski, Magdalena N; McKenzie, Chaseley E; Hung, Andrew; Kuanyshbek, Alibek; Soh, Ming S; Reid, Christopher A; Forster, Ian C